's genetics/gastroenterology visit yesterday

[Guest guest]

Hi all,

had an appointment at VCU Medical Center with genetics. Boy

am I more confused than ever. I expressed interest in having him

tested for the CHARGE gene and after the doctor examined him and

went through his medical records, she informed me he now only met

one major criteria and maybe a couple of minor ones, so we're

now " probable CHARGE " . Two different doctors also mentioned the

possibility of Kabuki syndrome as well because of the appearance of

his eyes. Because of the " probable CHARGE " , she said that our

insurance probably will not pay for the CHARGE testing, but said she

would write a really good letter in hopes that the insurance company

will consider paying for it. She wanted to have a CGH done to test

him against other syndromes and conditions. She said if nothing came

of that, there was another more in-depth test she wanted to try.

Unfortunately, she also said that Kabuki syndrome has no known

cause, so at the end of it all, he might be " probable CHARGE "

or " probable Kabuki " until better testing becomes available. She

said she would contact Baylor as did participate in the

study there and see if they had any results on him.

Our gastroenterology appointment was more satisfying. The doctor

thought he might possibly be having reflux and wanted to do a

swallow study on him. He prescribed Miralax for him as well because

he was pretty constipated (although he goes every day). does

have an anteriorly placed anus, so that might contribute to the

constipation in some way. He also wanted to have examined by

the team at Children's Hospital of Richmond Pediatric Feeding

Disorders program, where I was hoping and praying he would be able

to be seen. He mentioned that there was a great behavioral

psychologist who might be able to help with 's food avoidance

issues. I was sooooo happy about that!!!

So that's how our appointments went. It made me a little sad to

think that after 10 years, he may not even have CHARGE! I can't even

begin to imaging going to see a doctor and saying that my son has

some other syndrome!! LOL was so well behaved during the

appoitments. He kept interrupting the doctors while they were

speaking to me to ask them if they liked his sweater LOL!! Anyway,

just thought I'd share! Have a great weekend all!

[Guest guest]

I'm sorry you have to go through all this uncertainty, and especially at this

late stage in the game. My heart goes out to you. We were " probable " CHARGE

for two years so I know how it is to always be wondering. All I can say is

either way, is , and at least by now you know what some of his

capabilities and strengths are, unlike a newborn baby where you fear the

unknown. I hope and pray you find the answers you're looking for.

, Luke's mom

http://www.caringbridge.org/mn/lukejoseph

wrote:

Hi all,

had an appointment at VCU Medical Center with genetics. Boy

am I more confused than ever. I expressed interest in having him

tested for the CHARGE gene and after the doctor examined him and

went through his medical records, she informed me he now only met

one major criteria and maybe a couple of minor ones, so we're

now " probable CHARGE " . Two different doctors also mentioned the

possibility of Kabuki syndrome as well because of the appearance of

his eyes. Because of the " probable CHARGE " , she said that our

insurance probably will not pay for the CHARGE testing, but said she

would write a really good letter in hopes that the insurance company

will consider paying for it. She wanted to have a CGH done to test

him against other syndromes and conditions. She said if nothing came

of that, there was another more in-depth test she wanted to try.

Unfortunately, she also said that Kabuki syndrome has no known

cause, so at the end of it all, he might be " probable CHARGE "

or " probable Kabuki " until better testing becomes available. She

said she would contact Baylor as did participate in the

study there and see if they had any results on him.

Our gastroenterology appointment was more satisfying. The doctor

thought he might possibly be having reflux and wanted to do a

swallow study on him. He prescribed Miralax for him as well because

he was pretty constipated (although he goes every day). does

have an anteriorly placed anus, so that might contribute to the

constipation in some way. He also wanted to have examined by

the team at Children's Hospital of Richmond Pediatric Feeding

Disorders program, where I was hoping and praying he would be able

to be seen. He mentioned that there was a great behavioral

psychologist who might be able to help with 's food avoidance

issues. I was sooooo happy about that!!!

So that's how our appointments went. It made me a little sad to

think that after 10 years, he may not even have CHARGE! I can't even

begin to imaging going to see a doctor and saying that my son has

some other syndrome!! LOL was so well behaved during the

appoitments. He kept interrupting the doctors while they were

speaking to me to ask them if they liked his sweater LOL!! Anyway,

just thought I'd share! Have a great weekend all!

---------------------------------

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[Guest guest]

if he has all the other charactorristics i say its charge we need meg to

answer on this onelol

>

> I'm sorry you have to go through all this uncertainty, and especially at

> this late stage in the game. My heart goes out to you. We were " probable "

> CHARGE for two years so I know how it is to always be wondering. All I can

> say is either way, is , and at least by now you know what

> some of his capabilities and strengths are, unlike a newborn baby where you

> fear the unknown. I hope and pray you find the answers you're looking for.

>

> , Luke's mom

> http://www.caringbridge.org/mn/lukejoseph

>

>

> <cpagan@... <cpagan%40hawaii.edu>> wrote:

> Hi all,

> had an appointment at VCU Medical Center with genetics. Boy

> am I more confused than ever. I expressed interest in having him

> tested for the CHARGE gene and after the doctor examined him and

> went through his medical records, she informed me he now only met

> one major criteria and maybe a couple of minor ones, so we're

> now " probable CHARGE " . Two different doctors also mentioned the

> possibility of Kabuki syndrome as well because of the appearance of

> his eyes. Because of the " probable CHARGE " , she said that our

> insurance probably will not pay for the CHARGE testing, but said she

> would write a really good letter in hopes that the insurance company

> will consider paying for it. She wanted to have a CGH done to test

> him against other syndromes and conditions. She said if nothing came

> of that, there was another more in-depth test she wanted to try.

> Unfortunately, she also said that Kabuki syndrome has no known

> cause, so at the end of it all, he might be " probable CHARGE "

> or " probable Kabuki " until better testing becomes available. She

> said she would contact Baylor as did participate in the

> study there and see if they had any results on him.

>

> Our gastroenterology appointment was more satisfying. The doctor

> thought he might possibly be having reflux and wanted to do a

> swallow study on him. He prescribed Miralax for him as well because

> he was pretty constipated (although he goes every day). does

> have an anteriorly placed anus, so that might contribute to the

> constipation in some way. He also wanted to have examined by

> the team at Children's Hospital of Richmond Pediatric Feeding

> Disorders program, where I was hoping and praying he would be able

> to be seen. He mentioned that there was a great behavioral

> psychologist who might be able to help with 's food avoidance

> issues. I was sooooo happy about that!!!

>

> So that's how our appointments went. It made me a little sad to

> think that after 10 years, he may not even have CHARGE! I can't even

> begin to imaging going to see a doctor and saying that my son has

> some other syndrome!! LOL was so well behaved during the

> appoitments. He kept interrupting the doctors while they were

> speaking to me to ask them if they liked his sweater LOL!! Anyway,

> just thought I'd share! Have a great weekend all!

>

> ---------------------------------

> Check out the New Yahoo! Mail - Fire up a more powerful email and get

> things done faster.

>

>